Variant (rsID / SNP)

rs121909146

rs121909146 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SH3BP2. Location: chromosome 4, position 2,833,309. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SH3BP2Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 4:2833309
Cytoband: 4p16.3
HGVS: NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu)
Allele change: Missense_P418R

Associated conditions / phenotypes

Fibrous dysplasia of jaw

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.